Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.Y736_T738del0
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BLM

NM_000057.4:p.Y736_T738del0

Associated Papers

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

Prokofyeva D et al.

Breast Cancer Research and Treatment, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."